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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies

Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies

Summary

Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (NEDMABA) is an autosomal recessive disorder characterized by severe global developmental delay, usually with hypotonia and absence of spontaneous movements other than head control, impaired intellectual development with absent speech, distal contractures, progressive microcephaly, dysmorphic features, and distal skeletal abnormalities, such as rocker-bottom feet and clenched hands with camptodactyly. Brain imaging tends to show a simplified gyral pattern of the cerebral cortex, delayed myelination, thin corpus callosum, and hypoplasia of the brainstem and cerebellum. The disorder may be complicated by feeding and/or breathing difficulties, often resulting in death in infancy (summary by Magini et al., 2019). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: NEDMABA, NEDMEBA, NET13, NSMASE-3, NSMASE3, SKNY, SMPD4
    Summary: sphingomyelin phosphodiesterase 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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